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Frequently Asked Questions

Are we interested in targeted treatments for cancer?

Tumor somatic sequencing results and precision oncology targeted treatments are out of scope. However, germline variants that indicate a predisposition to cancers, including rare cancers, are within scope. Non-cancer somatic variant testing (e.g., to detect mosaicism or guide treatment decisions for congenital vascular anomalies) found in the input patient.phenotype field and/or as part of the question stem are also in scope.

Will we be asked to recommend non-intervention medical tests?

We will not ask you to recommend surveillance steps (e.g., imaging studies) following a diagnosis. Results of such studies provided in the input patient.phenotype field and/or as part of the question stem are considered in scope. For example, MRI evidence of gadolinium enhancement in X-linked Adrenoleukodystrophy patients indicates eligibility for haematopoietic stem cell transplantation, whereas an MRI showing no contrast enhancement would not indicate treatment.

What if there are no established targeted therapies or clinical trials?

Established therapies and active clinical trials may not exist for every case, but when they are available, identifying them accurately is especially important. Phase 2 submissions that miss these key opportunities may see a notable impact on helpfulness and comprehensiveness scores.

What about structural variants?

We are limiting question submissions to simple (single-nucleotide and insertion/deletion) variants that can be represented in HGVS cDNA and protein formats.

Are only established (e.g., not under development) drug repurposing methods valid?

For questions in the Drug Development and Repurposing category, retrieval of pertinent information for all scientific strategies (e.g., target/pathway reasoning, connectivity mapping, structural modeling) are welcome, provided the reasoning is clearly explained and evidence-based. Synthesis of insights across multiple data sources for specific candidates is highly encouraged, as is the analysis of candidate groups to identify shared mechanisms, patterns, or therapeutic opportunities.

Do we have to include personalized therapies in our Phase 2 Actionability Report?

Assessment of amenability to custom genetic therapies (e.g., ASOs, gene editing) is not required but may enhance overall scoring if included rigorously and appropriately.

Can we assume that the input genotype (variant) is confirmed diagnostic?

Yes.

Can we use closed models?

Yes. However, we will evaluate and award prizes to submitted systems in different categories; use of large vs. small models as well as use of open-source vs. proprietary models will be distinguished during evaluation.

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